FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.10  |  FHIR Version n/a  User: [n/a]

722433005: Dyschondrosteosis and nephritis syndrome (disorder)


Status: current, Primitive. Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3332049010 Dyschondrosteosis and nephritis syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core
3332050010 Dyschondrosteosis and nephritis syndrome en Synonym Active Case insensitive SNOMED CT core
3332051014 The association of short stature due to mesomelic shortening of the limbs and Madelung deformity with hereditary nephritis. The syndrome was originally described in male and female members from four generations of one large kindred. The females appeared to be more severely affected than the males, with a sex ratio (female to male) of 4:1. The skeletal anomalies closely resembled those of Leri-Weill dyschondrosteosis. The mode of transmission was reported as autosomal dominant. en Definition Active Case sensitive SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Dyschondrosteosis and nephritis syndrome Associated morphology Congenital dysplasia false Inferred relationship Some 2
Dyschondrosteosis and nephritis syndrome Occurrence Congenital true Inferred relationship Some 1
Dyschondrosteosis and nephritis syndrome Pathological process Pathological developmental process true Inferred relationship Some 1
Dyschondrosteosis and nephritis syndrome Occurrence Congenital true Inferred relationship Some 2
Dyschondrosteosis and nephritis syndrome Finding site Bone structure true Inferred relationship Some 2
Dyschondrosteosis and nephritis syndrome Pathological process Pathological developmental process true Inferred relationship Some 2
Dyschondrosteosis and nephritis syndrome Associated morphology Chronic inflammation true Inferred relationship Some 1
Dyschondrosteosis and nephritis syndrome Is a Congenital anomaly of the kidney true Inferred relationship Some
Dyschondrosteosis and nephritis syndrome Finding site Glomerulus structure true Inferred relationship Some 1
Dyschondrosteosis and nephritis syndrome Associated morphology Dysplasia true Inferred relationship Some 2
Dyschondrosteosis and nephritis syndrome Is a Chronic glomerulonephritis true Inferred relationship Some
Dyschondrosteosis and nephritis syndrome Is a Congenital anomaly of skeletal bone true Inferred relationship Some
Dyschondrosteosis and nephritis syndrome Clinical course Progressive true Inferred relationship Some 3
Dyschondrosteosis and nephritis syndrome Is a Developmental hereditary disorder true Inferred relationship Some
Dyschondrosteosis and nephritis syndrome Interprets Height / growth measure true Inferred relationship Some 4
Dyschondrosteosis and nephritis syndrome Is a Autosomal dominant hereditary disorder true Inferred relationship Some
Dyschondrosteosis and nephritis syndrome Is a Multiple system malformation syndrome true Inferred relationship Some
Dyschondrosteosis and nephritis syndrome Is a Mesomelic dysplasia true Inferred relationship Some
Dyschondrosteosis and nephritis syndrome Is a Congenital nephritis true Inferred relationship Some
Dyschondrosteosis and nephritis syndrome Is a Inherited disorder of connective tissue false Inferred relationship Some
Dyschondrosteosis and nephritis syndrome Is a Hereditary disorder of musculoskeletal system true Inferred relationship Some
Dyschondrosteosis and nephritis syndrome Is a Hereditary nephritis true Inferred relationship Some
Dyschondrosteosis and nephritis syndrome Associated morphology Chronic inflammation false Inferred relationship Some 3
Dyschondrosteosis and nephritis syndrome Occurrence Congenital false Inferred relationship Some 3
Dyschondrosteosis and nephritis syndrome Finding site Glomerulus structure false Inferred relationship Some 3
Dyschondrosteosis and nephritis syndrome Associated morphology Congenital dysplasia false Inferred relationship Some 4
Dyschondrosteosis and nephritis syndrome Occurrence Congenital false Inferred relationship Some 4
Dyschondrosteosis and nephritis syndrome Finding site Bone structure false Inferred relationship Some 4

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

Back to Start